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MeSH Review

Marfan Syndrome

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Disease relevance of Marfan Syndrome


High impact information on Marfan Syndrome


Chemical compound and disease context of Marfan Syndrome


Biological context of Marfan Syndrome


Anatomical context of Marfan Syndrome


Gene context of Marfan Syndrome


Analytical, diagnostic and therapeutic context of Marfan Syndrome


  1. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Kainulainen, K., Karttunen, L., Puhakka, L., Sakai, L., Peltonen, L. Nat. Genet. (1994) [Pubmed]
  2. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. Ng, C.M., Cheng, A., Myers, L.A., Martinez-Murillo, F., Jie, C., Bedja, D., Gabrielson, K.L., Hausladen, J.M., Mecham, R.P., Judge, D.P., Dietz, H.C. J. Clin. Invest. (2004) [Pubmed]
  3. New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse. Gayraud, B., Keene, D.R., Sakai, L.Y., Ramirez, F. J. Cell Biol. (2000) [Pubmed]
  4. Sensitive detection of abnormal aortic architecture in Marfan syndrome with high-frequency ultrasonic tissue characterization. Recchia, D., Sharkey, A.M., Bosner, M.S., Kouchoukos, N.T., Wickline, S.A. Circulation (1995) [Pubmed]
  5. A Gly --> Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1. Whiteman, P., Downing, A.K., Smallridge, R., Winship, P.R., Handford, P.A. J. Biol. Chem. (1998) [Pubmed]
  6. Heterozygous TGFBR2 mutations in Marfan syndrome. Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, M., Harada, N., Morisaki, T., Allard, D., Varret, M., Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., Boileau, C., Matsumoto, N. Nat. Genet. (2004) [Pubmed]
  7. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Neptune, E.R., Frischmeyer, P.A., Arking, D.E., Myers, L., Bunton, T.E., Gayraud, B., Ramirez, F., Sakai, L.Y., Dietz, H.C. Nat. Genet. (2003) [Pubmed]
  8. Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Pereira, L., Andrikopoulos, K., Tian, J., Lee, S.Y., Keene, D.R., Ono, R., Reinhardt, D.P., Sakai, L.Y., Biery, N.J., Bunton, T., Dietz, H.C., Ramirez, F. Nat. Genet. (1997) [Pubmed]
  9. Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. Liu, W., Qian, C., Francke, U. Nat. Genet. (1997) [Pubmed]
  10. Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Downing, A.K., Knott, V., Werner, J.M., Cardy, C.M., Campbell, I.D., Handford, P.A. Cell (1996) [Pubmed]
  11. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. Shores, J., Berger, K.R., Murphy, E.A., Pyeritz, R.E. N. Engl. J. Med. (1994) [Pubmed]
  12. Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype. Eldadah, Z.A., Brenn, T., Furthmayr, H., Dietz, H.C. J. Clin. Invest. (1995) [Pubmed]
  13. An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome. Ståhl-Hallengren, C., Ukkonen, T., Kainulainen, K., Kristofersson, U., Saxne, T., Tornqvist, K., Peltonen, L. J. Clin. Invest. (1994) [Pubmed]
  14. Marfan syndrome. Demonstration of abnormal elastin in aorta. Abraham, P.A., Perejda, A.J., Carnes, W.H., Uitto, J. J. Clin. Invest. (1982) [Pubmed]
  15. Cell-free synthesis of hyaluronic acid in Marfan syndrome. Appel, A., Horwitz, A.L., Dorfman, A. J. Biol. Chem. (1979) [Pubmed]
  16. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. Tsipouras, P., Del Mastro, R., Sarfarazi, M., Lee, B., Vitale, E., Child, A.H., Godfrey, M., Devereux, R.B., Hewett, D., Steinmann, B. N. Engl. J. Med. (1992) [Pubmed]
  17. A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. Pereira, L., Levran, O., Ramirez, F., Lynch, J.R., Sykes, B., Pyeritz, R.E., Dietz, H.C. N. Engl. J. Med. (1994) [Pubmed]
  18. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. Milewicz, D.M., Pyeritz, R.E., Crawford, E.S., Byers, P.H. J. Clin. Invest. (1992) [Pubmed]
  19. Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Kainulainen, K., Sakai, L.Y., Child, A., Pope, F.M., Puhakka, L., Ryhänen, L., Palotie, A., Kaitila, I., Peltonen, L. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  20. Partial sequence of a candidate gene for the Marfan syndrome. Maslen, C.L., Corson, G.M., Maddox, B.K., Glanville, R.W., Sakai, L.Y. Nature (1991) [Pubmed]
  21. Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. Aoyama, T., Francke, U., Dietz, H.C., Furthmayr, H. J. Clin. Invest. (1994) [Pubmed]
  22. An angiotensin-converting enzyme inhibitor, not an angiotensin II type-1 receptor blocker, prevents beta-aminopropionitrile monofumarate-induced aortic dissection in rats. Nagashima, H., Uto, K., Sakomura, Y., Aoka, Y., Sakuta, A., Aomi, S., Hagiwara, N., Kawana, M., Kasanuki, H. J. Vasc. Surg. (2002) [Pubmed]
  23. Allograft replacement of the aortic valve versus the miniroot and valve. Daicoff, G.R., Botero, L.M., Quintessenza, J.A. Ann. Thorac. Surg. (1993) [Pubmed]
  24. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Putnam, E.A., Zhang, H., Ramirez, F., Milewicz, D.M. Nat. Genet. (1995) [Pubmed]
  25. Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family. Boileau, C., Jondeau, G., Bonaiti, C., Coulon, M., Delorme, G., Dubourg, O., Bourdarias, J.P., Junien, C. J. Med. Genet. (1990) [Pubmed]
  26. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. Uyeda, T., Takahashi, T., Eto, S., Sato, T., Xu, G., Kanezaki, R., Toki, T., Yonesaka, S., Ito, E. J. Hum. Genet. (2004) [Pubmed]
  27. The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome. Liu, W., Faraco, J., Qian, C., Francke, U. Hum. Genet. (1997) [Pubmed]
  28. Expression of decorin in human tissues and cell lines and defined chromosomal assignment of the gene locus (DCN). Pulkkinen, L., Alitalo, T., Krusius, T., Peltonen, L. Cytogenet. Cell Genet. (1992) [Pubmed]
  29. Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome. Godfrey, M., Vandemark, N., Wang, M., Velinov, M., Wargowski, D., Tsipouras, P., Han, J., Becker, J., Robertson, W., Droste, S. Am. J. Hum. Genet. (1993) [Pubmed]
  30. Aortic dissection without Marfan's syndrome in ankylosing spondylitis. Takagi, H., Kato, T., Matsuno, Y., Umeda, Y., Fukumoto, Y., Mori, Y., Hirose, H. J. Thorac. Cardiovasc. Surg. (2004) [Pubmed]
  31. Quantitation of fibrillin immunofluorescence in fibroblast cultures in the Marfan syndrome. Schaefer, G.B., Godfrey, M. Clin. Genet. (1995) [Pubmed]
  32. Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients. de Oliveira Sobrinho, R.P., Moretti-Ferreira, D., Contini, A., Norato, D.Y. Am. J. Med. Genet. (1997) [Pubmed]
  33. Recurrent aortic dissection after orthotopic heart transplantation. Mullen, J.C., Lemermeyer, G., Bentley, M.J. Ann. Thorac. Surg. (1996) [Pubmed]
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